Article
Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2021
Yu Eric, Rudakou Uladzislau, Krohn Lynne, Mufti Kheireddin, Ruskey Jennifer A, Asayesh Farnaz, Estiar Mehrdad A, Spiegelman Dan, Surface Matthew, Fahn Stanley, Waters Cheryl H, Greenbaum Lior, Espay Alberto J, Dauvilliers Yves, Dupré Nicolas, Rouleau Guy A, Hassin-Baer Sharon, Fon Edward A, Alcalay Roy N, Gan-Or Ziv
Abstract excerpt
BACKGROUND: Biallelic PRKN mutation carriers with Parkinson's disease (PD) typically have an earlier disease onset, slow disease progression, and, often, different neuropathology compared to sporadic PD patients. However, the role of heterozygous PRKN variants in the risk of PD is controversial. OBJECTIVES: Our aim was to examine the association between heterozygous PRKN variants, including single-nucleotide...
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